Variant position: 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 365 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human YRNGDRYF-KGIVYAVSSDRF RSFDALLADLTRSLSDNINLP
Mouse YRNGDRYF-KGIVYAVSSDRF RSFDALLADLTRSLSDNINL
Rat YRNGDRYF-KGIVYAVSSDRF RSFDALLADLTRSLSDNINL
Slime mold FRNGDRYHVEGVHCLVHSSKF KTFDQLKLEFSK----KVGL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 365 Neuronal migration protein doublecortin
53 – 139 Doublecortin 1
70 – 70 Phosphotyrosine; by ABL
74 – 74 Phosphoserine; by PKC
90 – 90 Phosphoserine; by CK2
77 – 79
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Pilz D.T.; Kuc J.; Matsumoto N.; Bodurtha J.; Bernadi B.; Tassinari C.A.; Dobyns W.B.; Ledbetter D.H.;
Hum. Mol. Genet. 8:1757-1760(1999)
Cited for: VARIANTS SBHX HIS-78 AND GLY-89;
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